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30 积分 2025-01-11 加入
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Long‐term follow‐up of 64 children with classical infantile‐onset Pompe disease since 2004: a French real‐life observational study
2小时前
待确认
22q11.2 duplications: Expanding the clinical presentation
1天前
已完结
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China
3天前
已完结
Newborn screening for mucopolysaccharidosis type II: Lessons learned
10天前
已完结
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